Albalawi AM - Search Results

1

High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.

AlAyadhi LY, Hashmi JA, Iqbal M, Albalawi AM, Samman MI, Elamin NE, Bashir S, Basit S. AlAyadhi LY, et al. Among authors: albalawi am. Neuroscience. 2016 Dec 17;339:561-570. doi: 10.1016/j.neuroscience.2016.10.030. Epub 2016 Oct 19. Neuroscience. 2016. PMID: 27771533

2

A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly.

Hashmi JA, Al-Harbi KM, Ramzan K, Albalawi AM, Mehmood A, Samman MI, Basit S. Hashmi JA, et al. Among authors: albalawi am. Ann Saudi Med. 2016 Nov-Dec;36(6):391-396. doi: 10.5144/0256-4947.2016.391. Ann Saudi Med. 2016. PMID: 27920410 Free PMC article.

3

Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip.

Basit S, Albalawi AM, Alharby E, Khoshhal KI. Basit S, et al. Among authors: albalawi am. BMC Med Genet. 2017 Mar 21;18(1):34. doi: 10.1186/s12881-017-0393-8. BMC Med Genet. 2017. PMID: 28327142 Free PMC article.

4

Whole genome SNP genotyping in a family segregating developmental dysplasia of the hip detected runs of homozygosity on chromosomes 15q13.3 and 19p13.2.

Basit S, Alharby E, Albalawi AM, Khoshhal KI. Basit S, et al. Among authors: albalawi am. Congenit Anom (Kyoto). 2018 Mar;58(2):56-61. doi: 10.1111/cga.12235. Epub 2017 Aug 29. Congenit Anom (Kyoto). 2018. PMID: 28693051

5

A novel missense variant in the RASGRP2 gene in patients with moderate to severe bleeding disorder.

Alharby E, Bakhsh MA, Albalawi AM, Almutairi SO, Hashmi JA, Basit S. Alharby E, et al. Among authors: albalawi am. Platelets. 2020 Jul 3;31(5):646-651. doi: 10.1080/09537104.2019.1663803. Epub 2019 Sep 5. Platelets. 2020. PMID: 32609603 Free article.

6

Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.

Hashmi JA, Albarry MA, Almatrafi AM, Albalawi AM, Mahmood A, Basit S. Hashmi JA, et al. Among authors: albalawi am. Congenit Anom (Kyoto). 2018 Jan;58(1):10-15. doi: 10.1111/cga.12225. Epub 2017 May 28. Congenit Anom (Kyoto). 2018. PMID: 28419563

7

KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption.

Assiry AA, Albalawi AM, Zafar MS, Khan SD, Ullah A, Almatrafi A, Ramzan K, Basit S. Assiry AA, et al. Among authors: albalawi am. Sci Rep. 2019 Nov 11;9(1):16469. doi: 10.1038/s41598-019-52935-7. Sci Rep. 2019. PMID: 31712638 Free PMC article.

8

Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients.

Albarry MA, Hashmi JA, Alreheli AQ, Albalawi AM, Khan B, Ramzan K, Basit S. Albarry MA, et al. Among authors: albalawi am. Ophthalmic Genet. 2019 Dec;40(6):507-513. doi: 10.1080/13816810.2019.1703014. Epub 2019 Dec 13. Ophthalmic Genet. 2019. PMID: 31833436

9

Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II.

Albarry MA, Alreheli AQ, Albalawi AM, Basit S. Albarry MA, et al. Among authors: albalawi am. Saudi J Ophthalmol. 2019 Oct-Dec;33(4):326-331. doi: 10.1016/j.sjopt.2019.09.004. Epub 2019 Sep 18. Saudi J Ophthalmol. 2019. PMID: 31920441 Free PMC article.

10

A homozygous missense variant in the homeobox domain of the NKX6-2 results in progressive spastic ataxia type 8 associated with lower limb weakness and neurological manifestations.

Almatrafi A, Umair M, Eldardear A, Al-Luqmani M, Hashmi JA, Albalawi AM, Alfadhel M, Ramzan K, Basit S. Almatrafi A, et al. Among authors: albalawi am. J Gene Med. 2020 Aug;22(8):e3196. doi: 10.1002/jgm.3196. Epub 2020 Apr 16. J Gene Med. 2020. PMID: 32246862

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